Thought Leader

It is known that TCF-1 is required for T cell development, but the mechanism by which
it controls the T cell lineage remains unclear. Johnson et al. reveal that TCF-1 controls
T cell fate through its ability to create de novo open chromatin,...

Transposable elements (TE) are an important source of evolutionary novelty in gene regulation. However, the mechanisms by which TEs contribute to gene expression are largely uncharacterized. Here, we leverage Roadmap and GTEx data to investigate the...

Single-cell RNA-Seq makes it possible to characterize the transcriptomes of cell types and identify their transcriptional signatures via differential analysis. We present a method for discriminating cell types that takes advantage of the large...

Many disease risk loci identified in genome-wide association studies are present in non-coding regions of the genome. It is hypothesized that these variants affect complex traits by acting as expression quantitative trait loci (eQTLs) that influence...

Deep-coverage whole genome sequencing at the population level is now feasible and offers potential advantages for locus discovery, particularly in the analysis rare mutations in non-coding regions. Here, we performed whole genome sequencing in...

The composition of the gut microbiome in industrialized populations differs from those living traditional lifestyles. However, it has been difficult to separate the contributions of human genetic and geographic factors from lifestyle/modernization....

Identification of coding variant associations for complex diseases offers a direct route to biological insight, but is dependent on appropriate inference concerning the causal impact of those variants on disease risk. We aggregated coding variant...

The false discovery rate measures the proportion of false discoveries among a set of hypothesis tests called significant. This quantity is typically estimated based on p-values or test statistics. In some scenarios, there is additional information...

Background: Somatic mutations observed in clonal hematopoiesis are associated with increased age and risk of hematological malignancies. However, the limited number of acute myeloid leukemia (AML) patients in studies of clonal hematopoiesis thus far...

Genome-wide association studies have uncovered common variants at many loci influencing human complex traits and diseases, such as high-density lipoprotein cholesterol (HDL-C). However, the contribution of the identified genes is difficult to...

Despite critical functions in cutaneous health and disease, it is unclear how resident skin microbial communities are altered by topical antimicrobial interventions commonly used in personal and clinical settings. Here we show that acute exposure to...

The genetic basis of earlobe attachment has been a matter of debate since the early
20th century, such that geneticists argue both for and against polygenic inheritance.
Recent genetic studies have identified a few loci associated with the trait,...